rs104894101

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104894101(C;T)

Make rs104894101(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127868455

Gene

AK1

is a	snp
is	mentioned by
dbSNP	rs104894101
dbSNP (classic)	rs104894101
ClinGen	rs104894101
ebi	rs104894101
HLI	rs104894101
Exac	rs104894101
Gnomad	rs104894101
Varsome	rs104894101
LitVar	rs104894101
Map	rs104894101
PheGenI	rs104894101
Biobank	rs104894101
1000 genomes	rs104894101
hgdp	rs104894101
ensembl	rs104894101
geneview	rs104894101
scholar	rs104894101
google	rs104894101
pharmgkb	rs104894101
gwascentral	rs104894101
openSNP	rs104894101
23andMe	rs104894101
SNPshot	rs104894101
SNPdbe	rs104894101
MSV3d	rs104894101
GWAS Ctlg	rs104894101

Merged from

Rs28930974

Max Magnitude

0

OMIM	103000
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894101(T;T)
Alt	rs104894101(T;T)
Reference	Rs104894101(C;C)
Significance	Pathogenic
Disease	Adenylate kinase deficiency
Variation	info
Gene	AK1
CLNDBN	Adenylate kinase deficiency, hemolytic anemia due to
Reversed	1
HGVS	NC_000009.11:g.130630734G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019925.29,